Early onset seizures and Rett-like features associated with mutations in CDKL5
نویسندگان
چکیده
منابع مشابه
Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy (CDKL5 / cyclin-dependent kinase-like 5 protein / early-onset epileptic encephalopathy / early-onset seizure variant of Rett syndrome)
The X-linked CDKL5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical Rett syndrome with early-onset seizures. The CDKL5 protein is a kinase required for neuronal development and morphogenesis, but its precise functions are still largely unexplored. Individuals with CDKL5 mutations present with severe global developmental d...
متن کاملCDKL5 and ARX mutations in males with early-onset epilepsy.
Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. Although numerous males with ARX mutations associated with various phenotypes have been reported in the literature, the majority of CDKL5 mutations have been identified in females with a phenotype characterized by early-onset epilepsy, severe global developmental delay, absen...
متن کاملCDKL5 mutations in early epileptic encephalopathy and in atypical forms of Rett syndrome
Rett syndrome (RTT, MIM #312750) is a neurodevelopmental disorder defined by a distinct set of clinical features, notably a regression that robs the affected individuals of spoken language and volitional hand use [1]. Additionally, affected people develop characteristic hand stereotypies that are classically wringing or washing in nature, although they make take on a variety of forms such as cl...
متن کاملSeizures and electroencephalographic findings in CDKL5 mutations: case report and review.
Mutations in the X-linked gene cyclin-dependent kinase-like 5 (CDKL5) have been detected in patients presenting with seizures in the first few months of life and Rett syndrome features. Twenty-seven cases have been detected to date. Generalized intractable seizures, as infantile spasms, and generalized tonic-clonic seizures and myoclonic seizures characterize the clinical picture of CDKL5 mutat...
متن کاملKey clinical features to identify girls with CDKL5 mutations.
Mutations in the human X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been shown to cause infantile spasms as well as Rett syndrome (RTT)-like phenotype. To date, less than 25 different mutations have been reported. So far, there are still little data on the key clinical diagnosis criteria and on the natural history of CDKL5-associated encephalopathy. We screened the entire coding re...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2005
ISSN: 1018-4813,1476-5438
DOI: 10.1038/sj.ejhg.5201451